Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P130S
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SMAD4

NM_005359.6:p.P130S

Associated Papers

RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Jbara A et al.

Nature, 2023

36949200 (PubMed )
Supplement: NIHMS1897967-supplement-1897967_Supp_table_1.xlsx › clin_data_PDA_Patients

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS1

Wip1 regulates Smad4 phosphorylation and inhibits TGF-β signaling.

Park DS et al.

Embo Reports, 2020

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis

PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.

Yokota T et al.

Bmc Cancer, 2018

30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations

Next generation sequencing of carcinoma of unknown primary reveals novel combinatorial strategies in a heterogeneous mutational landscape.

Subbiah IM et al.

Oncoscience, 2017

Point mutations in the tumor suppressor Smad4/DPC4 enhance its phosphorylation by GSK3 and reversibly inactivate TGF-β signaling.

Demagny H et al.

Molecular & Cellular Oncology, 2016

A Bayesian ensemble approach with a disease gene network predicts damaging effects of missense variants of human cancers.

Won HH et al.

Human Genetics, 2013

Structural and functional impact of cancer-related missense somatic mutations.

Shi Z et al.

Journal of Molecular Biology, 2011

Genetic and pharmacological inhibition of PDK1 in cancer cells: characterization of a selective allosteric kinase inhibitor.

Nagashima K et al.

The Journal of Biological Chemistry, 2011

To (TGF)beta or not to (TGF)beta: fine-tuning of Smad signaling via post-translational modifications.

Wrighton KH et al.

Cellular Signalling, 2008

A complex pattern of mutations and abnormal splicing of Smad4 is present in thyroid tumours.

Lazzereschi D et al.

Oncogene, 2005

Two somatic biallelic lesions within and near SMAD4 in a human breast cancer cell line.

Jakob J et al.

Genes, Chromosomes & Cancer, 2005

Regulation of the TGFbeta signalling pathway by ubiquitin-mediated degradation.

Izzi L et al.

Oncogene, 2004

Tumor-derived C-terminal mutations of Smad4 with decreased DNA binding activity and enhanced intramolecular interaction.

Kuang C et al.

Oncogene, 2004

Differential ubiquitination defines the functional status of the tumor suppressor Smad4.

Morén A et al.

The Journal of Biological Chemistry, 2003

Functional consequences of tumorigenic missense mutations in the amino-terminal domain of Smad4.

Morén A et al.

Oncogene, 2000

Functional mapping of the MH1 DNA-binding domain of DPC4/SMAD4.

Jones JB et al.

Nucleic Acids Research, 2000

Crystal structure of a Smad MH1 domain bound to DNA: insights on DNA binding in TGF-beta signaling.

Shi Y et al.

Cell, 1998

Evaluation of the FHIT gene in colorectal cancers.

Thiagalingam S et al.

Cancer Research, 1996

Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers.

Thiagalingam S et al.

Nature Genetics, 1996

Higher TP53 somatic mutation prevalence from liquid biopsy analysis in ever smoker non-small-cell lung cancer patients.

Erdem HB et al.

Mutation Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."